All of these results provide strong evidence that the loss and overproduction of Rtl1 are responsible for the muscle abnormalities observed in the Pat-Rtl1Δ and Mat-Rtl1Δ mice, respectively, as well as the muscle symptoms observed in Temple and Kagami-Ogata syndromes (Kagami et al., 2005, 2008, 2015; Ogata and Kagami, 2016; Kotzot et al., 2004; Ioannides et al., 2014; Georgiades et al., 2000; Sekita et al., 2008; Kitazawa et al., 2017). The gene discussed is RTL1; the disease is multiple congenital anomalies due to 14q32.2 maternally expressed gene defect.